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DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriersGenome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer riskEvidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomasFatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriersIdentification of six new susceptibility loci for invasive epithelial ovarian cancer.An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriersExpanding the mutational spectrum of LZTR1 in schwannomatosis.Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factorIdentification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers.A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers.Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner.A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.Creation of an international registry to support discovery in schwannomatosis.Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.A kindred with MYH-associated polyposis and pilomatricomas.
P50
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P50
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